{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA401703604", "communityStandardTitle": [ "NM_001375808.2(LPIN2):c.1673G>A (p.Trp558Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2921693[alleleid]", "alleleId": 2921693, "preferredName": "NM_001375808.2(LPIN2):c.1673G>A (p.Trp558Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2760513", "RCV": [ "RCV003504975" ], "variationId": 2760513 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.2927757C>T?assembly=hg19", "id": "chr18:g.2927757C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr18:g.2927759C>T?assembly=hg38", "id": "chr18:g.2927759C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2510249351", "rs": 2510249351 } ] }, "genomicAlleles": [ { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 2927759, "referenceAllele": "C", "start": 2927758 } ], "hgvs": [ "NC_000018.10:g.2927759C>T", "CM000680.2:g.2927759C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000066" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 2927757, "referenceAllele": "C", "start": 2927756 } ], "hgvs": [ "NC_000018.9:g.2927757C>T", "CM000680.1:g.2927757C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000042" }, { "chromosome": "18", "coordinates": [ { "allele": "T", "end": 2917757, "referenceAllele": "C", "start": 2917756 } ], "hgvs": [ "NC_000018.8:g.2917757C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000018" }, { "coordinates": [ { "allele": "A", "end": 89189, "referenceAllele": "G", "start": 89188 } ], "hgvs": [ "NG_007507.1:g.89189G>A", "LRG_174:g.89189G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000627" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1982, "referenceAllele": "G", "start": 1981 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000261596.9:c.1673G>A" ], "proteinEffect": { "hgvs": "ENSP00000261596.4:p.Trp558Ter", "hgvsWellDefined": "ENSP00000261596.4:p.Trp559_Ser896delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS904318" }, { "coordinates": [ { "allele": "A", "end": 1740, "referenceAllele": "G", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000697039.1:c.1673G>A" ], "proteinEffect": { "hgvs": "ENSP00000513061.1:p.Trp558Ter", "hgvsWellDefined": "ENSP00000513061.1:p.Trp559_Arg853delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerCysAlaSerArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908470" }, { "coordinates": [ { "allele": "A", "end": 1788, "referenceAllele": "G", "start": 1787 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000697040.1:c.1673G>A" ], "proteinEffect": { "hgvs": "ENSP00000513062.1:p.Trp558Ter", "hgvsWellDefined": "ENSP00000513062.1:p.Trp559_Ser896delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908471" }, { "coordinates": [ { "allele": "A", "end": 368, "referenceAllele": "G", "start": 367 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000697041.1:c.368G>A" ], "proteinEffect": { "hgvs": "ENSP00000513063.1:p.Trp123Ter", "hgvsWellDefined": "ENSP00000513063.1:p.Trp124_Ser414delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908472" }, { "coordinates": [ { "allele": "A", "end": 1768, "referenceAllele": "G", "start": 1767 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000697042.1:c.1673G>A" ], "proteinEffect": { "hgvs": "ENSP00000513064.1:p.Trp558Ter", "hgvsWellDefined": "ENSP00000513064.1:p.Trp558_Lys648del" }, "referenceSequence": "http://reg.genome.network/refseq/RS908473" }, { "coordinates": [ { "allele": "A", "end": 1740, "referenceAllele": "G", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000677752.1:c.1673G>A" ], "proteinEffect": { "hgvs": "ENSP00000504857.1:p.Trp558Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS777405", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677752.1:c.1673G>A" }, "RefSeq": { "hgvs": "NM_001375808.2:c.1673G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000504857.1:p.Trp558Ter" }, "RefSeq": { "hgvs": "NP_001362737.1:p.Trp558Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1912, "referenceAllele": "G", "start": 1911 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "ENST00000261596.8:c.1673G>A" ], "proteinEffect": { "hgvs": "ENSP00000261596.4:p.Trp558Ter", "hgvsWellDefined": "ENSP00000261596.4:p.Trp559_Ser896delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS250788" }, { "@id": "http://reg.genome.network/allele/PA2741942251", "coordinates": [ { "allele": "A", "end": 1912, "referenceAllele": "G", "start": 1911 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "NM_014646.2:c.1673G>A", "LRG_174t1:c.1673G>A" ], "proteinEffect": { "hgvs": "NP_055461.1:p.Trp558Ter", "hgvsWellDefined": "NP_055461.1:p.Trp559_Ser896delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS033335" }, { "coordinates": [ { "allele": "A", "end": 1908, "referenceAllele": "G", "start": 1907 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258177.3:c.1784G>A" ], "proteinEffect": { "hgvs": "XP_005258234.1:p.Trp595Ter", "hgvsWellDefined": "XP_005258234.1:p.Trp596_Ser933delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061978" }, { "coordinates": [ { "allele": "A", "end": 1911, "referenceAllele": "G", "start": 1910 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258178.2:c.1673G>A" ], "proteinEffect": { "hgvs": "XP_005258235.1:p.Trp558Ter", "hgvsWellDefined": "XP_005258235.1:p.Trp559_Ser896delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061979" }, { "coordinates": [ { "allele": "A", "end": 1783, "referenceAllele": "G", "start": 1782 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258179.3:c.1673G>A" ], "proteinEffect": { "hgvs": "XP_005258236.1:p.Trp558Ter", "hgvsWellDefined": "XP_005258236.1:p.Trp559_Ser896delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS061980" }, { "coordinates": [ { "allele": "A", "end": 1732, "referenceAllele": "G", "start": 1731 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XR_935074.1:n.1732G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS130354" }, { "coordinates": [ { "allele": "A", "end": 1982, "referenceAllele": "G", "start": 1981 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258177.4:c.1784G>A" ], "proteinEffect": { "hgvs": "XP_005258234.1:p.Trp595Ter", "hgvsWellDefined": "XP_005258234.1:p.Trp596_Ser933delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534793" }, { "coordinates": [ { "allele": "A", "end": 1911, "referenceAllele": "G", "start": 1910 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258178.3:c.1673G>A" ], "proteinEffect": { "hgvs": "XP_005258235.1:p.Trp558Ter", "hgvsWellDefined": "XP_005258235.1:p.Trp559_Ser896delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534794" }, { "coordinates": [ { "allele": "A", "end": 1846, "referenceAllele": "G", "start": 1845 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_005258179.5:c.1673G>A" ], "proteinEffect": { "hgvs": "XP_005258236.1:p.Trp558Ter", "hgvsWellDefined": "XP_005258236.1:p.Trp559_Ser896delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534795" }, { "coordinates": [ { "allele": "A", "end": 2001, "referenceAllele": "G", "start": 2000 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_017026098.1:c.1673G>A" ], "proteinEffect": { "hgvs": "XP_016881587.1:p.Trp558Ter", "hgvsWellDefined": "XP_016881587.1:p.Trp559_Ser896delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576306" }, { "coordinates": [ { "allele": "A", "end": 1772, "referenceAllele": "G", "start": 1771 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XM_017026099.1:c.1673G>A" ], "proteinEffect": { "hgvs": "XP_016881588.1:p.Trp558Ter", "hgvsWellDefined": "XP_016881588.1:p.Trp559_Ser896delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS576307" }, { "coordinates": [ { "allele": "A", "end": 1777, "referenceAllele": "G", "start": 1776 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "XR_935074.2:n.1777G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS610881" }, { "@id": "http://reg.genome.network/allele/PA2828629011", "coordinates": [ { "allele": "A", "end": 1911, "referenceAllele": "G", "start": 1910 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "NM_001375808.1:c.1673G>A" ], "proteinEffect": { "hgvs": "NP_001362737.1:p.Trp558Ter", "hgvsWellDefined": "NP_001362737.1:p.Trp559_Ser896delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693890" }, { "@id": "http://reg.genome.network/allele/PA2828629486", "coordinates": [ { "allele": "A", "end": 1790, "referenceAllele": "G", "start": 1789 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "NM_001375809.1:c.1673G>A" ], "proteinEffect": { "hgvs": "NP_001362738.1:p.Trp558Ter", "hgvsWellDefined": "NP_001362738.1:p.Trp559_Ser896delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS693891" }, { "@id": "http://reg.genome.network/allele/PA2828629011", "coordinates": [ { "allele": "A", "end": 1740, "referenceAllele": "G", "start": 1739 } ], "gene": "http://reg.genome.network/gene/GN014450", "geneNCBI_id": 9663, "geneSymbol": "LPIN2", "hgvs": [ "NM_001375808.2:c.1673G>A" ], "proteinEffect": { "hgvs": "NP_001362737.1:p.Trp558Ter", "hgvsWellDefined": "NP_001362737.1:p.Trp559_Ser896delinsPheTrpArgLysArgGluSerMetThrLysGlnLeuProGluSerLysGluGlyLysSerGluAlaProProAlaSerAspLeuProSerSerSerLysGluProAlaGlyAlaArgProAlaGluAsnAspSerSerSerAspGluGlySerGlnGluLeuGluGluSerIleThrValAspProIleProThrGluProLeuSerHisGlySerThrThrSerTyrLysLysSerLeuArgLeuSerSerAspGlnIleAlaLysLeuLysLeuHisAspGlyProAsnAspValValPheSerIleThrThrGlnTyrGlnGlyThrCysArgCysAlaGlyThrIleTyrLeuTrpAsnTrpAsnAspLysIleIleIleSerAspIleAspGlyThrIleThrLysSerAspAlaLeuGlyGlnIleLeuProGlnLeuGlyLysAspTrpThrHisGlnGlyIleAlaLysLeuTyrHisSerIleAsnGluAsnGlyTyrLysPheLeuTyrCysSerAlaArgAlaIleGlyMetAlaAspMetThrArgGlyTyrLeuHisTrpValAsnAspLysGlyThrIleLeuProArgGlyProLeuMetLeuSerProSerSerLeuPheSerAlaPheHisArgGluValIleGluLysLysProGluLysPheLysIleGluCysLeuAsnAspIleLysAsnLeuPheAlaProSerLysGlnProPheTyrAlaAlaPheGlyAsnArgProAsnAspValTyrAlaTyrThrGlnValGlyValProAspCysArgIlePheThrValAsnProLysGlyGluLeuIleGlnGluArgThrLysGlyAsnLysSerSerTyrHisArgLeuSerGluLeuValGluHisValPheProLeuLeuSerLysGluGlnAsnSerAlaPheProCysProGluPheSerSerPheCysTyrTrpArgAspProIleProGluValAspLeuAspAspLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS721228", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000677752.1:c.1673G>A" }, "RefSeq": { "hgvs": "NM_001375808.2:c.1673G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000504857.1:p.Trp558Ter" }, "RefSeq": { "hgvs": "NP_001362737.1:p.Trp558Ter" } } } } ], "type": "nucleotide" }